Viêm cầu thận phân đoạn rải rác, bệnh võng mạc giống như Coats, điếc cảm giác thần kinh và sự nhân đôi nhiễm sắc thể 4: một sự liên kết mới

Keats TE, Sistrom C (2001) Atlas of radiologic measurements, 7th edn. Mosby, St. Louis De Greef JC, Frants RR, van der Maarel SM (2008) Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res 647(1–2):94–102 Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upahyaya M (2003) D4F104S1 deletion in facioscapulohumeral dystrophy: phenotype, size and detection. Neurology 61(2):178–183 Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ (2009) RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of fascioscapulohumeral dystrophy. Hum Mol Genet 18(13):2414–2430 Ottaviani A, Rival-Gervier S, Boussouar A, Foerster A, Rondier D, Sacconi S, Desnuelle C, Gilson E, Magdinier F (2009) The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in fascio-scapular-humeral dystrophy. PLoS Genet 5(2):e1000394 Phillips JE, Corces VG (2009) CTCF: master weaver of the genome. Cell 137(7):1194–1211 Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet Part C Semin Med Genet 151C(4):281–295 Gierson MA, Korthals JK, Kousseff BG, Opitz JM, Reynolds JF (2005) Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Am J Med Gen 22(1):143–147 Allingham RR, Seo B, Rampersaud E, Bembe M, Challa P, Liu N, Parrish T, Karolak L, Gilbert J, Pericak-Vance MA, Klintworth GK, Vance JM (2001) A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. Am J Hum Genet 68(2):491–494 Pollak M (2002) Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint. J Am Soc Nephrol 13(12):3016–3023 Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, Hasselbacher K, Ozaltin F, Hildebrandt F, APN Study Group (2008) Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 19(2):365–371 D’Agati VD (2008) The spectrum of focal segmental glomerulosclerosis: new insights. Curr Opin Nephrol Hypertens 17(3):271–281 Goutieres F, Dollfus H, Becquet F, Dufier JL (1999) Extensive brain calcification in two children with bilateral Coats’ disease. Neuropediatrics 30(1):19–21 Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB (2004) Coats’ plus: a progressive familial syndrome of bilateral Coats’ disease, characteristic cerebral calcification, leukoencepehalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 35(1):10–19 Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin B2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13(21):2625–2632 Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A (2003) Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24. J Am Soc Nephrol 14(7):1794–1803 Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP (2009) Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review. Eur J Pediatr 168(11):1291–1304